Submissions for variant NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) (rs10864198)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000041665	SCV000065361	benign	not specified	2012-02-02	criteria provided, single submitter	clinical testing	Caucasian data = 3655/7020 (ESP data)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000041665	SCV000114876	benign	not specified	2013-03-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000041665	SCV000169757	benign	not specified	2011-07-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics	RCV000041665	SCV000317185	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000041665	SCV000884837	benign	not specified	2018-07-05	criteria provided, single submitter	clinical testing
Mendelics	RCV000986525	SCV001135540	benign	Usher syndrome, type 2A	2019-05-28	criteria provided, single submitter	clinical testing